Variant report

Variant	nsv1047211
Chromosome Location	chr14:45123087-45233226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
2	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
3	chr14:45227214..45228776-chr14:45264086..45266649,2	MCF-7	breast:
4	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
5	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
6	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
7	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
8	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
9	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
10	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
11	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
12	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
13	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
14	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
15	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
16	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
17	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
18	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
19	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
20	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
21	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
22	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
23	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-3	chr14:45232360-45234829	ENSG00000258998

No data

Extended variants
information (count: 1922 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1922 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116425438	chr14:45123123-45123124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534704853	chr14:45123163-45123164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528919057	chr14:45123182-45123183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147305633	chr14:45123216-45123217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148735193	chr14:45123217-45123218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545010106	chr14:45123259-45123260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7142648	chr14:45123302-45123303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184686212	chr14:45123308-45123309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189055456	chr14:45123332-45123333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560742980	chr14:45123349-45123350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528295909	chr14:45123368-45123369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17115379	chr14:45123378-45123379	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs181385975	chr14:45123452-45123453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2415875	chr14:45123497-45123498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533148601	chr14:45123535-45123536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186220204	chr14:45123536-45123537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570216188	chr14:45123549-45123550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531227740	chr14:45123550-45123551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142356573	chr14:45123560-45123561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34155200	chr14:45123610-45123611	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535269230	chr14:45123629-45123630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189544642	chr14:45123638-45123639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368447901	chr14:45123645-45123646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551118988	chr14:45123685-45123686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116286088	chr14:45123691-45123692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62013394	chr14:45123720-45123721	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556907527	chr14:45123733-45123734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559649990	chr14:45123737-45123738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542489687	chr14:45123794-45123795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367996752	chr14:45123836-45123837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527751051	chr14:45123860-45123861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs180685826	chr14:45123872-45123873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572665050	chr14:45123963-45123964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150811716	chr14:45123973-45123974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117115682	chr14:45124070-45124071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115987808	chr14:45124176-45124177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545215028	chr14:45124190-45124191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563697884	chr14:45124232-45124233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528417785	chr14:45124237-45124238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187436482	chr14:45124241-45124242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191060897	chr14:45124251-45124252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544942477	chr14:45124253-45124254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547224271	chr14:45124261-45124262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571787724	chr14:45124284-45124285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567634738	chr14:45124377-45124378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538720747	chr14:45124412-45124413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183232574	chr14:45124434-45124435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185983966	chr14:45124450-45124451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535859460	chr14:45124451-45124452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12587277	chr14:45124484-45124485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45118600-45126000	Weak transcription	Fetal Heart	heart
2	chr14:45121000-45124200	Enhancers	Fetal Lung	lung
3	chr14:45122400-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:45122800-45123200	Enhancers	Fetal Brain Male	brain
5	chr14:45122800-45123200	Enhancers	Fetal Stomach	stomach
6	chr14:45123600-45126000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:45123800-45124000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr14:45124200-45125800	Weak transcription	Fetal Lung	lung
9	chr14:45125800-45128000	Enhancers	Fetal Lung	lung
10	chr14:45126000-45126800	Enhancers	Liver	Liver
11	chr14:45126000-45127000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:45126000-45127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:45126000-45127600	Enhancers	Fetal Heart	heart
14	chr14:45126600-45127400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:45126600-45127400	Enhancers	Fetal Brain Female	brain
16	chr14:45126800-45127200	Flanking Active TSS	Liver	Liver
17	chr14:45127200-45128400	Enhancers	Liver	Liver
18	chr14:45127400-45131600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:45128400-45131000	Weak transcription	Liver	Liver
20	chr14:45131000-45131600	Enhancers	Liver	Liver
21	chr14:45131200-45132000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:45131200-45132800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:45131400-45131600	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:45131400-45131800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:45131400-45131800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:45131400-45132400	Enhancers	Fetal Intestine Small	intestine
27	chr14:45131400-45132600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:45131400-45133200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:45131600-45131800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:45131600-45132000	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr14:45131600-45132000	Flanking Active TSS	Liver	Liver
32	chr14:45131600-45132200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:45131600-45132200	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr14:45131600-45132200	Enhancers	Dnd41	blood
35	chr14:45131600-45132400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:45131600-45132800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:45131600-45133000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:45131600-45133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:45131600-45133600	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr14:45131600-45133600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:45131800-45132800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:45132000-45132200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr14:45132000-45132200	Enhancers	Liver	Liver
44	chr14:45132000-45132400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr14:45132200-45132400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr14:45132200-45132400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:45132400-45132600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:45132800-45133200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:45132800-45133600	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:45137000-45137400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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